Genetic structure of the indigenous population of South Siberia according to Y-chromosome and autosomal markers

The results of a study on the gene pools of indigenous peoples of Southern Siberia – Altaians (Altai-kizhi, Telengits, Kumandins, Tubalars, Chelkans), Khakassians (Kachins, Koibals, Sagais) and Shors – based on uniparental (40 SNP and 17 STR markers of the Y-chromosome) and autosomal (7 SNPs in the genes ADH1B, ALDH2, CYP2E1, CYP1A1, PON1, GSTP1) DNA markers are discussed. The total sample size was 728 individuals. The Y-chromosome study revealed that the combined gene pool of the studied indigenous populations of Southern Siberia is represented by 21 haplogroups. A characteristic feature of the examined populations was the presence of both common (with a predominance of West Eurasian R1a and R1b and North Eurasian N1b, N1c1, Q) and unique haplogroups, reflecting the genetic history of gene pool formation. Based on data on polymorphic variants of selectively significant genes, the variability of MAF frequencies was shown. Cluster analysis based on data from two types of genetic markers, illustrated by multidimensional scaling methods, demonstrated a close, but not completely matching result.

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